Linked Data
dbSNP Id:
rs766659428
gnomAD v2:
9-101304158-A-C
gnomAD v3:
9-98541876-A-C
gnomAD v4:
9-98541876-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541876A>C , CM000671.2:g.98541876A>C | GRCh38 |
| NC_000009.11:g.101304158A>C , CM000671.1:g.101304158A>C | GRCh37 |
| NC_000009.10:g.100343979A>C | NCBI36 |
| NG_016426.1:g.172322T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.627T>G MANE Select | ENSP00000259455.2:p.Ser209= | |
| ENST00000637410.1:n.405T>G | ||
| ENST00000259455.3:c.627T>G | ENSP00000259455.2:p.Ser209= | |
| ENST00000477471.1:n.414T>G | ||
| ENST00000634227.1:n.401T>G | ||
| NM_005458.7:c.627T>G | NP_005449.5:p.Ser209= | |
| XM_017015331.2:c.333T>G | XP_016870820.1:p.Ser111= | |
| NM_005458.8:c.627T>G MANE Select | NP_005449.5:p.Ser209= |